Glutaric acidemia type II patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: A case report and review of literature

Glutaric acidemia type II (GAII), also known as multiple acyl-CoA dehydrogenase deficiency, is an autosomal recessive inborn error of amino acid and fatty acid metabolism. We report a case of GAII with novel electron transfer flavoprotein (ETF)-A mutations in a 2-year-old female with thalassemia min...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:World J Clin Cases
Prif Awduron: Saral, Neslihan Yildirim, Aksungar, Fehime Benli, Aktuglu-Zeybek, Cigdem, Coskun, Julide, Demirelce, Ozlem, Serteser, Mustafa
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Baishideng Publishing Group Inc 2018
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6264994/
https://ncbi.nlm.nih.gov/pubmed/30510944
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12998/wjcc.v6.i14.786
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg